Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.
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Alstrom syndrome (OMIM 203800): a case report and literature reviewDiffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational studyCardiac magnetic resonance imaging in Alström syndromeGenetic defects in human pericentrin are associated with severe insulin resistance and diabetes.The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy.Clinical utility gene card for: Alström syndrome.Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.Alström Syndrome: Mutation Spectrum of ALMS1.The progression from obesity to type 2 diabetes in Alström syndrome.Alström syndrome: cardiac magnetic resonance findings.Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromesDifferential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes.Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome.Truncation of POC1A associated with short stature and extreme insulin resistanceNovel ALMS1 mutations in Chinese patients with Alström syndrome.Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndromePleiotropic genetic syndromes with developmental abnormalities associated with obesity.Presentation and course of diabetes in children and adolescents with Alstrom syndrome.Mechanistic insights into insulin resistance in the genetic era.Perspectives in Pediatric Pathology, Chapter 21. Testicular Pathology in Heritable Metabolic Disease.Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome.Ethnic and population differences in the genetic predisposition to human obesity.Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action.Alström syndrome: genetics and clinical overviewBody fat distribution, serum glucose, lipid and insulin response to meals in Alström syndrome.Alström syndrome.Caloric restriction in Alström syndrome prevents hyperinsulinemia.
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P2860
Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
Syndromic obesity and diabetes ...... indreds with Alstrom syndrome.
@en
Syndromic obesity and diabetes ...... indreds with Alstrom syndrome.
@nl
type
label
Syndromic obesity and diabetes ...... indreds with Alstrom syndrome.
@en
Syndromic obesity and diabetes ...... indreds with Alstrom syndrome.
@nl
altLabel
Syndromic Obesity and Diabetes ...... Kindreds with Alström Syndrome
@en
prefLabel
Syndromic obesity and diabetes ...... indreds with Alstrom syndrome.
@en
Syndromic obesity and diabetes ...... indreds with Alstrom syndrome.
@nl
P2093
P356
P1476
Syndromic obesity and diabetes ...... kindreds with Alstrom syndrome
@en
P2093
C J Ricketts
J A L Minton
J R Porter
N Crabtree
P304
P356
10.1210/JC.2005-2633
P407
P577
2006-05-23T00:00:00Z